Article
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Human mutation - 1 Oct 2004
Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A
Abstract excerpt
GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the infantile form of GM1-gangliosidosis originating from the Middle East (two from Saudi Arabia and three from the...
Topics
- Animals
- COS Cells
- Catalysis
- Chlorocebus aethiops
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Female
- Gangliosidosis, GM1
- Genetic Heterogeneity
- Humans
- Introns
- Male
- Mutation
- Mutation, Missense